Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: RYR1: 7361G>A; Arg2454His
Clinical Features of Suspected Malignant Hyperthermia in China from 2015 to 2020: A Retrospective Study from China Malignant Hyperthermia Emergency Assistance Group.
Journal Of Multidisciplinary Healthcare
Tan, Lingcan L; Teng, Yi Y; Yu, Hong H; Liu, Chunyuan C; Xiao, Kun K; Yin, Jin J; Zuo, Yunxia Y; Zhu, Tao T; Deng, Xiaoqian X
Publication Date: 2022
Variant appearance in text: RYR1: 7361G>A; Arg2454His
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
European Journal Of Human Genetics : Ejhg
Fridriksdottir, Run R; Jonsson, Arnar J AJ; Jensson, Brynjar O BO; Sverrisson, Kristinn O KO; Arnadottir, Gudny A GA; Skarphedinsdottir, Sigurbjorg J SJ; Katrinardottir, Hildigunnur H; Snaebjornsdottir, Steinunn S; Jonsson, Hakon H; Eiriksson, Ogmundur O; Oskarsson, Gudjon R GR; Oddsson, Asmundur A; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Sigurdsson, Gisli H GH; Indridason, Einar P EP; Sigurdsson, Stefan B SB; Bjornsdottir, Gyda G; Saemundsdottir, Jona J; Magnusson, Olafur T OT; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sigurdsson, Theodor S TS; Sulem, Patrick P; Sigurdsson, Martin I MI; Stefansson, Kari K
Publication Date: 2021-12
Variant appearance in text: RYR1: 7361G>A; Arg2454His
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
European Journal Of Human Genetics : Ejhg
Fridriksdottir, Run R; Jonsson, Arnar J AJ; Jensson, Brynjar O BO; Sverrisson, Kristinn O KO; Arnadottir, Gudny A GA; Skarphedinsdottir, Sigurbjorg J SJ; Katrinardottir, Hildigunnur H; Snaebjornsdottir, Steinunn S; Jonsson, Hakon H; Eiriksson, Ogmundur O; Oskarsson, Gudjon R GR; Oddsson, Asmundur A; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Sigurdsson, Gisli H GH; Indridason, Einar P EP; Sigurdsson, Stefan B SB; Bjornsdottir, Gyda G; Saemundsdottir, Jona J; Magnusson, Olafur T OT; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sigurdsson, Theodor S TS; Sulem, Patrick P; Sigurdsson, Martin I MI; Stefansson, Kari K
Publication Date: 2021-12
Variant appearance in text: RYR1: 7361G>A; Arg2454His
Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.
Journal Of Personalized Medicine
Gill, Pritmohinder S PS; Yu, Feliciano B FB; Porter-Gill, Patricia A PA; Boyanton, Bobby L BL; Allen, Judy C JC; Farrar, Jason E JE; Veerapandiyan, Aravindhan A; Prodhan, Parthak P; Bielamowicz, Kevin J KJ; Sellars, Elizabeth E; Burrow, Andrew A; Kennedy, Joshua L JL; Clothier, Jeffery L JL; Becton, David L DL; Rule, Don D; Schaefer, G Bradley GB
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Plos Genetics
Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY
Publication Date: 2021-02
Variant appearance in text: RYR1: 7361G>A; rs118192122
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Orphanet Journal Of Rare Diseases
Lawal, Tokunbor A TA; Wires, Emily S ES; Terry, Nancy L NL; Dowling, James J JJ; Todd, Joshua J JJ
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Journal Of Neurology
Knuiman, G J GJ; Küsters, B B; Eshuis, L L; Snoeck, M M; Lammens, M M; Heytens, L L; De Ridder, W W; Baets, J J; Scalco, R S RS; Quinlivan, R R; Holton, J J; Bodi, I I; Wraige, E E; Radunovic, A A; von Landenberg, C C; Reimann, J J; Kamsteeg, E-J EJ; Sewry, C C; Jungbluth, H H; Voermans, N C NC
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.
Clinical Pharmacology And Therapeutics
Gonsalves, Stephen G SG; Dirksen, Robert T RT; Sangkuhl, Katrin K; Pulk, Rebecca R; Alvarellos, Maria M; Vo, Teresa T; Hikino, Keiko K; Roden, Dan D; Klein, Teri E TE; Poler, S Mark SM; Patel, Sephalie S; Caudle, Kelly E KE; Gordon, Ronald R; Brandom, Barbara B; Biesecker, Leslie G LG
Genetic epidemiology of malignant hyperthermia in the UK.
British Journal Of Anaesthesia
Miller, D M DM; Daly, C C; Aboelsaod, E M EM; Gardner, L L; Hobson, S J SJ; Riasat, K K; Shepherd, S S; Robinson, R L RL; Bilmen, J G JG; Gupta, P K PK; Shaw, M-A MA; Hopkins, P M PM
Publication Date: 2018-10
Variant appearance in text: RYR1: 7361G>A; Arg2454His
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Orphanet Journal Of Rare Diseases
Klingler, Werner W; Heiderich, Sebastian S; Girard, Thierry T; Gravino, Elvira E; Heffron, James Ja JJ; Johannsen, Stephan S; Jurkat-Rott, Karin K; Rüffert, Henrik H; Schuster, Frank F; Snoeck, Marc M; Sorrentino, Vincenzo V; Tegazzin, Vincenzo V; Lehmann-Horn, Frank F
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Anesthesia And Analgesia
Brandom, Barbara W BW; Bina, Saiid S; Wong, Cynthia A CA; Wallace, Tarina T; Visoiu, Mihaela M; Isackson, Paul J PJ; Vladutiu, Georgirene D GD; Sambuughin, Nyamkhishig N; Muldoon, Sheila M SM
Special article: Future directions in malignant hyperthermia research and patient care.
Anesthesia And Analgesia
Hirshey Dirksen, Sharon J SJ; Larach, Marilyn Green MG; Rosenberg, Henry H; Brandom, Barbara W BW; Parness, Jerome J; Lang, Robert Scott RS; Gangadharan, Meera M; Pezalski, Tyler T